Conditions / Genetic
paroxysmal nonkinesigenic dyskinesia 3
info · Genetic
A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22.
Signs and symptoms
- Global developmental delay
- Brisk reflexes
- Paroxysmal dyskinesia
- Hypotonia
- Generalized non-motor (absence) seizure
- EEG with spike-wave complexes (>3.5 Hz)
- Bilateral tonic-clonic seizure with generalized onset
- Seizure
Also known as: generalized epilepsy and paroxysmal dyskinesia; paroxysmal nonkinesigenic dyskinesia 3 with or without generalized epilepsy